Kelly C. Heim, Ph.D. – Nutritional Pharmacologist – Pure Encapsulations®
Few practitioners would argue that the following sequence is among the most familiar scenarios in medicine:  Two patients visit you with the same nutrient deficiency. You dispense the same supplement, at the same dose, over a 4-month period. One patient responds, while other does not.
“Biochemical individuality” is one of the most nebulous terms in the history of medicine. It encompasses what is medically intractable, seldom implying action and resolution. It is also one of the most costly, perpetuating open-ended, exploratory iterations of trial and error. These are a few of the reasons why personalized medicine is gaining traction so swiftly in clinics around the globe.
To effectively implement and optimize individualized care, you must consider its deepest roots—the blueprint of life.  Approximately 2.68 billion miles of DNA make one patient different from the next.  The DNA is a long string of about 19,000 genes—regions of the DNA that serve as an instruction manual to make proteins that the body needs, such as enzymes, receptors and insulin.  Thousands of possible variations in these genes account for distinctive features ranging from hair color to homocysteine levels.
Simple variations with big implications*
The most common type of variations is strikingly simple. Picture a DNA helix, akin to a twisting ladder, with different “rungs” (known as nucleotides). Sometimes, when DNA is being copied during development, one nucleotide is mistakenly switched for another. Known as a single nucleotide polymorphisms (SNP; pronounced “snip”), this minor error changes the genetic code. Clinically relevant SNPs allow oddly shaped or unstable proteins to be produced, with physiological corollaries ranging from behavior to blood pressure.
Over 12 million SNPs have been identified to date, but over 99% are clinically insignificant.1 Dozens of SNPs have been found to modify nutritional needs and responses to dietary interventions, including supplements.2 Nearly 2,000 studies and scholarly reviews have characterized the prototype—the C677T SNP in the MTHFR gene, which affects up to 39% of North American Caucasians. This variation, which inhibits the conversion of folic acid and other folates to the active coenzyme, 5-MTHF, is associated with mental health, vascular function and cellular health.3-5
Many SNPs are amenable to nutritional support*
Studies show that with the right approach, some SNPs are responsive to simple dietary modalities.  In patients with the C677T SNP, supplementation with folate or riboflavin supports vascular function and mental health.6,7  Individuals with a SNP in transcobalamin, a B12-transporter, respond to high-dose B12 supplementation.8  A SNP in the COMT gene often predicts a better response to hydroxycobalamin and/or adenosylcobalamin compared to methylcobalamin.  SNPs allow practitioners to understand biochemical individuality on an objective basis, and to administer targeted interventions with greater confidence.
The use of genetic testing to construct nutritional protocols may also improve compliance and eating habits, according to new research. In a study conducted at the University of Toronto, patients who received personalized dietary advice based on their genetic makeup adopted healthier eating habits compared to those who received “one-size-fits-all” guidance.9 Another benefit to patients is that re-testing is not necessary, and the 23andMe results remain accurate over a lifetime.
Getting started*
23andMe (www.23andMe.com) is a personal genomics company that offers saliva-based kits, which are mailed back for DNA sequencing.  Results are compiled into a secure, downloadable file. However, clinically pertinent variations are not annotated. The 23andMe report lacks organization, and is extremely difficult to interpret.  Several websites offer SNP reports based on 23andMe data. PureGenomics is an upcoming web app that distills and translates 23andMe results into a concise profile of medically relevant methylation SNPs with targeted nutritional supplement recommendations. This dynamic and evolving tool is scheduled to launch within the next several months.
Until recently, genetic testing has been a forward-thinking discourse without a road map for clinical integration. The process of identifying which SNPs matter and making rational, individualized supplement decisions is becoming easier than ever before, bridging the historically immense gap between genetics research and personalized medicine. In essence, SNPs are fortuitous and highly objective opportunities to Seek New Potential.


  1. Voisey J, Morris CP. Curr Drug Discov Technol 2008 Sep;5(3):230-5.
  2. Ames BN, Elson-Schwab I, Silver EA. Am J Clin Nutr 2002 Apr;75(4):616-58.
  3. Bousman CA, Potiriadis M, Everall IP, Gunn JM. Am J Med Genet B Neuropsychiatr Genet 2014 Jan;165B(1):68-76.
  4. Liu NB, Li J, Qi JF, et al. Med Sci Monit 2014 Dec 29;20:2817-23.
  5. Hou X, Chen X, Shi J. Gene 2015 Mar 31. doi: 10.1016/j.gene.2015.03.062.
  6. McNulty H, Strain J, Ward M. Arch Public Health 2014 Jun 6;72(Suppl 1):K2. doi:10.1186/2049-3258-72-S1-K2.
  7. Lizer MH, Bogdan RL, Kidd RS. J Psychiatr Pract 2011 Nov;17(6):404-9.
  8. Zeitlin HC, Sheppard K, Baum JD, et al. Blood 1985 Nov;66(5):1022-7.

Nielsen DE, El-Sohemy A. PLoS ONE 2014; 9 (11): e112665.

*These statements have not been evaluated by the Food and Drug Administration. This product is not intended to diagnose, treat, cure or prevent any disease.